Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report
中国两个智障兄弟姐妹PAK3基因错义新变异1例
作者: Yanyan QianBingbing WuYulan LuWenhao ZhouSujuan WangHuijun Wang
作者单位: 1Center for Molecular Medicine, Children’s Hospital of Fudan University, Shanghai Key Laboratory of Birth Defects, 201102, Shanghai, China
2Departments of Rehabilitation, Children’s Hospital of Fudan University, 201102, Shanghai, China
3Pediatrics Research Institute, Children’s Hospital of Fudan University, 399 Wanyuan Road, 201102, Shanghai, China
刊名: BMC Medical Genetics, 2020, Vol.21 (29), pp.182-209
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-020-0957-x
关键词: Intellectual disability (ID)Exome sequencingPAK3Pathogenic variants
英文摘要: Abstract(#br)Background(#br)Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders. Case presentation(#br)In this study, we reported on two male siblings, aged 4 and 2 years, with motor and mental developmental delays and mild dysmorphic facial features. To identify the genetic causes of these symptoms, we employed trio-whole exome sequencing for the proband. We found a novel hemizygous missense variant in the PAK3 gene (c.1112G > A, p.Cys371Tyr), which encodes the p21-activated kinase 3, in the proband, which inherited from mother. The younger brother also has the hemizygous variant, which was confirmed by Sanger sequencing. The variant is...
全文获取路径: Springer Nature  (合作)
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影响因子:2.536 (2012)

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